Canonical Allele Identifier: CA1192442831
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119760045G= , CM000663.2:g.119760045G= GRCh38
NC_000001.10:g.120302668G= , CM000663.1:g.120302668G= GRCh37
NC_000001.9:g.120104191G= NCBI36
NG_013348.1:g.13888C= , LRG_447:g.13888C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.560-56C= MANE Select ENSP00000358414.3:n.560-56C=
ENST00000369406.7:c.560-56C= ENSP00000358414.3:n.560-56C=
ENST00000476640.1:n.456-56C=
ENST00000544913.2:c.560-763C= ENSP00000439495.2:n.560-763C=
NM_001166107.1:c.560-763C= , LRG_447t2:c.560-763C= NP_001159579.1:n.560-763C=
NM_005518.3:c.560-56C= , LRG_447t1:c.560-56C= NP_005509.1:n.560-56C=
XM_011541313.1:c.560-56C= XP_011539615.1:n.560-56C=
XM_011541313.2:c.560-56C= XP_011539615.1:n.560-56C=
NM_005518.4:c.560-56C= MANE Select NP_005509.1:n.560-56C=